ClinVar Miner

List of variants in gene combination FANCI, POLG reported as uncertain significance for anemia

Included ClinVar conditions (292):
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3644-72C>A rs1801377 0.00312
NM_002693.3(POLG):c.3644-184T>C rs115758754 0.00173
NM_002693.3(POLG):c.*63A>G rs552236933 0.00061
NM_002693.3(POLG):c.*100G>A rs770839560 0.00012
NM_002693.3(POLG):c.3644-16T>C rs536522307 0.00012
NM_002693.3(POLG):c.*122G>A rs886051517 0.00009
NM_002693.3(POLG):c.*44G>C rs563185483 0.00009
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619 0.00007
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) rs750792237 0.00006
NM_002693.3(POLG):c.3644-116T>C rs777372106 0.00003
NM_001113378.2(FANCI):c.3925G>A (p.Gly1309Ser) rs1357711884 0.00001
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser) rs754573704 0.00001
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met) rs916916820 0.00001
NC_000015.9:g.(?_89790879)_(89859690_?)dup
NM_001113378.2(FANCI):c.*614T>G rs886051521
NM_001113378.2(FANCI):c.*662C>G rs560246181
NM_001113378.2(FANCI):c.3925-10_3935inv
NM_001113378.2(FANCI):c.3925-84_3925-81dup rs1444126104
NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs) rs2152049557
NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val) rs771174269
NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg) rs1402252175
NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)
NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs) rs771578684
NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn) rs1159813655
NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?)
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329=)
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) rs144346886

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